Brief Report

Vol. 30, No. 5, 2018 633

Received September 20, 2017, Revised November 21, 2017, Accepted for publication November 30, 2017

Corresponding author: Weon Ju Lee, Department of Dermatology, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea. Tel: 82-53-420-5838, Fax: 82-53-426-0770, E-mail: weonju@knu.ac.krORCID: https://orcid.org/0000-0001-5708-1305

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology

function as ligands of the orphan receptors LGR4 and LGR5 to regulate Wnt/beta-catenin signaling. Proc Natl Acad Sci U

S A 2011;108:11452-11457.

7. Wu J, Xie N, Xie K, Zeng J, Cheng L, Lei Y, et al. GPR48, a poor prognostic factor, promotes tumor metastasis and

activates β-catenin/TCF signaling in colorectal cancer. Carcino-

genesis 2013;34:2861-2869.8. Sexton M, Jones DB, Maloney ME. Histologic pattern

analysis of basal cell carcinoma. Study of a series of 1039

consecutive neoplasms. J Am Acad Dermatol 1990;23(6 Pt 1):1118-1126.

9. Cohen PR, Schulze KE, Nelson BR. Basal cell carcinoma

with mixed histology: a possible pathogenesis for recurrent skin cancer. Dermatol Surg 2006;32:542-551.

10. Oh ST, Kim HS, Yoo NJ, Lee WS, Cho BK, Reichrath J.

Increased immunoreactivity of membrane type-1 matrix metalloproteinase (MT1-MMP) and β-catenin in high-risk

basal cell carcinoma. Br J Dermatol 2011;165:1197-1204.

https://doi.org/10.5021/ad.2018.30.5.633

Huge Steatocystoma Multiplex with New Point Mutation in the Exon 1 of KRT 17 Gene

Jun Young Kim, Jun Hong Park, Chihyeon Sohng, Yong Hyun Jang, Seok-Jong Lee, Weon Ju Lee

Department of Dermatology, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Korea

Dear Editor:A 50-year-old woman presented with huge multiple cysts on the back, chest, abdomen, neck, axillae, antecubital fossae, and popliteal fossae for 40 years (Fig. 1A). All of the cysts were asymptomatic and non-inflammatory. Her father and her son also had cysts of same nature. However, the cysts were not huge in size. Her laboratory findings, including CBC, urinalysis, VDRL, LFT/RFT, PT/PTT, and HB markers, were normal or within normal limits. Histopathologic findings showed a huge cyst sur-rounded by stratified squamous epithelium with adjacent sebaceous glands (Fig. 2A). Immunohistochemistry using CK-17 antibody was positive on the cyst wall and seba-ceous glands (Fig. 2B). She was diagnosed with steatocys-toma multiplex. We carried out mutation analysis of KRT 17 gene using direct sequencing. We found new point mutation in the exon 1 of KRT 17 gene (c. 425G＞T) (Fig.

2C). She underwent operations several times and finally got a good cosmetic result (Fig. 1B). We received patient consent form for publishing photos.Steatocystoma multiplex is a rare disorder manifested as skin-colored subcutaneous cysts1. It usually begins on the chest and abdomen in pubertal period, and varies from matchhead to bean in size. However, the cysts in this case were extraordinarily huge. In Korea, only Jeong et al.2 re-ported giant steatocystoma multiplex limited in the scalp. Pathogenetically, steatocystoma multiplex is usually asso-ciated with mutation in the KRT 17 gene exhibiting auto-somal dominance1. Keratin 17 is a type I cytokeratin which is found in nail beds, hair follicles and sebaceous glands. Based on the data of several studies, different mu-tations can develop the same clinical phenotype in steato-cystoma multiplex, and the same mutations can cause dif-ferent clinical phenotypes3. Therefore, it is supported that

Brief Report

634 Ann Dermatol

Fig. 1. (A) Huge multiple cysts on her back and right axilla and (B) improved status after operation.

Fig. 2. (A) A cyst covered by stratified squamous cells with adjacent sebaceous glands (H&E, ×100). (B) Immunohistochemistry was positive on the cyst wall and sebaceous glands (CK-17, ×200). (C) Missense mutation in exon 1 of KRT 17 gene (c. 425G＞T).

the genotype-phenotype correlation of steatocytoma multi-plex can be determined, not only by the KRT 17 gene mu-tation but also other modifying factors including the site, androgenic stimulation and environmental factors4,5. Although this case had huge steatocytoma multiplex with point mutation in the exon 1 of KRT 17 gene, the correla-tion between genotype and phenotype should be determined. The various modalities in the treatment of steatocystoma multiplex include surgery, laser therapy, cryotherapy, ra-

diofrequency incision probe and oral isotretinoin1. This patient was treated with surgical procedure and got a good cosmetic result. We here report a case of huge stea-tocystoma multiplex with new point mutation in the exon 1 of KRT 17 gene.

CONFLICTS OF INTEREST

The authors have nothing to disclose.

Brief Report

Vol. 30, No. 5, 2018 635

Received October 31, 2017, Revised November 20, 2017, Accepted for publication November 30, 2017

Corresponding author: Dong-Youn Lee, Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea. Tel: 82-2-3410-3543, Fax: 82-2-3410-3869, E-mail: dylee@skku.eduORCID: https://orcid.org/0000-0003-0765-9812

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology

REFERENCES

1. Kamra HT, Gadgil PA, Ovhal AG, Narkhede RR. Steato-

cystoma multiplex-a rare genetic disorder: a case report and review of the literature. J Clin Diagn Res 2013;7:166-168.

2. Jeong SY, Kim JH, Seo SH, Son SW, Kim IH. Giant steato-

cystoma multiplex limited to the scalp. Clin Exp Dermatol 2009;34:e318-e319.

3. Liu Q, Wu W, Lu J, Wang P, Qiao F. Steatocystoma

multiplex is associated with the R94C mutation in the KRTl7 gene. Mol Med Rep 2015;12:5072-5076.

4. Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS,

Jonkman MF, et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Br J Dermatol 1998;139:475-480.

5. Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the pheno-

type-genotype correlation. Br J Dermatol 1999;140:815-828.

https://doi.org/10.5021/ad.2018.30.5.635

A Case of Mycosis Fungoides Occurring after Primary Gamma-Delta T-Cell Lymphoma

Se Jin Oh, Hyun Jeong Byun, Seung Hwan Oh, Ji-Young Jun, Ji-Hye Park, Jong Hee Lee, Dong-Youn Lee, Joo-Heung Lee, Jun-Mo Yang

Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Dear Editor:Mycosis fungoides (MF) represents the most common type of cutaneous T-cell lymphoma, characterized by epi-dermotropic proliferation of small-to medium-sized T-cells1. On the other hand, primary cutaneous gam-ma-delta T-cell lymphoma (PCGD-TCL) is composed of a clonal proliferation of mature, activated gamma-delta T-cells with a cytotoxic phenotype1. Here, we report a case of MF following PCGD-TCL. To our knowledge, this is the first reported case. A 52-year-old woman presented with a 2-year history of erythematous lesion with crust and erosion on the right pubic area. She had no particular medical history. A biop-sy specimen revealed infiltration of medium to large sized atypical lymphoid cells in the dermis and subcutis (Fig. 1). We received the patient’s consent form about publishing

all photographic materials. The majority of atypical cells were CD3+, CD4−, CD8−, and CD56+. Also im-munostaining revealed the absence of T-cell receptor (TCR)-βF1. Laboratory examination revealed leukocytosis (9,900/μl; normal: 3,150∼8,630/μl). Positron emission tomography showed no internal organ involvement. The patient was diagnosed with PCGD-TCL. The patient re-ceived multidrug chemotherapy; 6 cycles of bortezomib, cyclophosphamide, adriamycin, vincristine, and predniso-lone. After 1 year PCGD-TCL recurred and the patient re-ceived radiotherapy after 6 cycles of chemotherapy. This resulted in complete response for PCGD-TCL. Three years later, the patient revisited with erythematous scaly patches on her extremities and trunk. A biopsy specimen showed epidermal and dermal infiltration of atypical lymphocyte (Fig. 2). Phenotypes of these cells were CD3+, CD4+,